Endocrine

Question 1

What are signs and symptoms of congenital hypothyroidism?

Answer 1

Infants with examination findings will usually have an umbilical hernia and a distended abdomen. The head may be large, and the fontanelles will be large as well. The child may be hypothermic and have feeding difficulties; constipation and jaundice may be persistent. Skin may be cold and mottled, and edema may be found in the genitals and extremities. The heart rate may be slow, and anemia may develop. As these findings may be subtle or nonexistent, neonatal screening programs are extremely important for early diagnosis of these infants.

Question 2

What is pseudohypoparathyroidism (Albright hereditary osteodystrophy)?

Answer 2

Patients have chemical findings of hypoparathyroidism (low calcium, high phosphorus), but parathyroid hormone levels are high, indicating resistance to the action of this hormone. Phenotypically, these patients demonstrate shortness of stature with delayed bone age, mental retardation, increased bone density throughout the body (especially evident in the skull), brachydactyly (especially of the fourth and fifth digits), obesity with round facies and short neck, subcapsular cataracts, cutaneous and subcutaneous calcifications, and perivascular calcifications of the basal ganglia.

Question 3

How are calcium and phosphate levels affected in vitamin D-resistant rickets?

Answer 3

Normal calcium, low phosphate (anomaly of renal tubule reabsorption of phosphate

Question 4

What is the most common cause of congenital hypothyroidism?

Answer 4

Thyroid dysgenesis

Question 5

Why are girls with Turner syndrome given estrogen replacement therapy?

Answer 5

To promote normal sexual maturation and reduce the risk of osteoporosis

Question 6

What is the treatment for idiopathic central precocious puberty?

Answer 6

GnRH agonist